Identification of the pathogenic variants in two Chinese patients with primary ciliary dyskinesia
Objective To characterize the clinical features and to identify the pathogenic variants in two Chinese patients with primary ciliary dyskinesia (PCD). Methods The clinical data and peripheral blood sample from the patients were collected, and genomic DNA was subsequently extracted from the periphe...
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| Format: | Article |
| Language: | zho |
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Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2024-05-01
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| Series: | Jichu yixue yu linchuang |
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| Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-5-677.pdf |